Condition: Dyskinetic syndrome


rs1554389088 in CAMK2B gene and Dyskinetic syndrome PMID 29100089 2017 De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.

rs752513525 in NDUFA13 gene and Dyskinetic syndrome PMID 25901006 2015 Mutation in NDUFA13/GRIM19 leads to early onset hypotonia, dyskinesia and sensorial deficiencies, and mitochondrial complex I instability.

rs139455627 in TSPEAR gene and Dyskinetic syndrome PMID 27736875 2016 Mutations in TSPEAR, Encoding a Regulator of Notch Signaling, Affect Tooth and Hair Follicle Morphogenesis.

rs1569151872 in TSPEAR-AS1;TSPEAR gene and Dyskinetic syndrome PMID 27736875 2016 Mutations in TSPEAR, Encoding a Regulator of Notch Signaling, Affect Tooth and Hair Follicle Morphogenesis.